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- Title
Naegeli–Franceschetti–Jadassohn syndrome and dermatopathia pigmentosa reticularis: intrafamilial overlap of phenotypes in patients with the same KRT14 frameshift variant.
- Authors
Burger, B.; Spoerri, I.; Imahorn, E.; Wariwoda, H.; Leeb, T.; Itin, P. H.
- Abstract
Dear Editor, Naegeli-Franceschetti-Jadassohn syndrome (NFJS; OMIM 161000) and dermatopathia pigmentosa reticularis (DPR; OMIM 125595) have been defined as separate ectodermal dysplasias. Identification of the same frameshift variant in five first-degree relatives with diagnosed signs both of NFJS and DPR refutes the idea that NFJS and DPR are distinct diseases. The anhidrosis, hypoplasia/aplasia of dermatoglyphics and PPK, which are typical for NFJS and DPR, were present in all patients.
- Subjects
SYNDROMES; PHENOTYPES; ALOPECIA areata; EPIDERMOLYSIS bullosa; PATIENT participation; DENTAL enamel; PALMOPLANTAR keratoderma
- Publication
British Journal of Dermatology, 2019, Vol 181, Issue 4, p864
- ISSN
0007-0963
- Publication type
Article
- DOI
10.1111/bjd.17997